Symbol: Name: ID: |
VHL von Hippel-Lindau tumor suppressor GFS:2464 |
Gene name: | VHL |
Chromosome: | 3p25.3 |
Previous Symbols: | |
Previous Names: | von Hippel-Lindau syndrome |
Aliases: | VHL1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:103223 | Rat Genome Database ID: | RGD:3960 |
HGNC ID: | HGNC:12687 | RefSeq IDs: | NM_000551 |
Entrez Gene ID: | 7428 | Ensembl Gene ID: | ENSG00000134086 |
VEGA IDs: | OTTHUMG00000128668 | UniProt ID: | P40337 |
UCSC ID: | uc003bvc.2 | OMIM ID: | 608537 |
Pubmed: | PMID9671762 | ||
CCDS IDs: | CCDSCCDS2597.1 CCDS CCDS2598.1 |
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq].
Function: Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases.
Products for VHL gene
Catalog | Product Name | Application | Company |
GFS:E02464 | von Hippel-Lindau tumor suppressor; ELISA kit | ELISA | n/a |
GFS:A02464 | von Hippel-Lindau tumor suppressor; Anti | ANTIBODIES | n/a |
GFS:P02464 | von Hippel-Lindau tumor suppressor; Protien | Protien | n/a |